| 8581999 | CV116451 | single nucleotide variant | NM_001526.3(HCRTR2):c.-2076G>T | Lung cancer [RCV000096974] | uncertain significance | 6 | 55172512 | 55172512 | Human | | name |
| 15139865 | CV758907 | single nucleotide variant | NM_001525.3(HCRTR1):c.965+10C>T | not provided [RCV000921583] | likely benign | 1 | 31623759 | 31623759 | Human | | name |
| 8582000 | CV116452 | single nucleotide variant | NM_001526.3(HCRTR2):c.223+24421T>C | Lung cancer [RCV000096975] | uncertain significance | 6 | 55199231 | 55199231 | Human | | name |
| 8582001 | CV116453 | single nucleotide variant | NM_001526.3(HCRTR2):c.224-32928T>C | Lung cancer [RCV000096976] | uncertain significance | 6 | 55215711 | 55215711 | Human | | name |
| 405266276 | CV3201872 | single nucleotide variant | NM_001524.1(HCRT):c.303A>T (p.Ala101=) | HCRT-related disorder [RCV003911362] | likely benign | 17 | 42184247 | 42184247 | Human | | name , trait , alternate_id |
| 405267776 | CV3205688 | single nucleotide variant | NM_001524.1(HCRT):c.203A>G (p.Lys68Arg) | HCRT-related disorder [RCV003947406] | likely benign | 17 | 42184347 | 42184347 | Human | | name , trait , alternate_id |
| 405266607 | CV3211847 | microsatellite | NM_001524.1(HCRT):c.47TGC[8] (p.Leu22_Pro23insLeu) | HCRT-related disorder [RCV003947128] | likely benign | 17 | 42184482 | 42184483 | Human | | name , trait , alternate_id |
| 405270995 | CV3218822 | single nucleotide variant | NM_001524.1(HCRT):c.342C>G (p.Arg114=) | HCRT-related disorder [RCV003971581] | likely benign | 17 | 42184208 | 42184208 | Human | | name , trait , alternate_id |
| 405276369 | CV3193391 | single nucleotide variant | NM_001384272.1(HCRTR2):c.922A>G (p.Ile308Val) | HCRTR2-related disorder [RCV003974558] | benign | 6 | 55277539 | 55277539 | Human | | name , trait , alternate_id |
| 405271987 | CV3203072 | single nucleotide variant | NM_001384272.1(HCRTR2):c.444C>T (p.Ile148=) | HCRTR2-related disorder [RCV003914122] | benign | 6 | 55255177 | 55255177 | Human | | name , trait , alternate_id |
| 405294193 | CV3203552 | single nucleotide variant | NM_001384272.1(HCRTR2):c.30C>T (p.Pro10=) | HCRTR2-related disorder [RCV003934076] | likely benign | 6 | 55174617 | 55174617 | Human | | name , trait , alternate_id |
| 405258162 | CV3208251 | single nucleotide variant | NM_001384272.1(HCRTR2):c.28C>T (p.Pro10Ser) | HCRTR2-related disorder [RCV003941685] | likely benign | 6 | 55174615 | 55174615 | Human | | name , trait , alternate_id |
| 405256131 | CV3208697 | single nucleotide variant | NM_001384272.1(HCRTR2):c.213G>A (p.Gly71=) | HCRTR2-related disorder [RCV003939756] | likely benign | 6 | 55174800 | 55174800 | Human | | name , trait , alternate_id |
| 405255777 | CV3210845 | single nucleotide variant | NM_001384272.1(HCRTR2):c.577T>A (p.Cys193Ser) | HCRTR2-related disorder [RCV003939351] | likely benign | 6 | 55255310 | 55255310 | Human | | name , trait , alternate_id |
| 15157843 | CV699626 | single nucleotide variant | NM_001384272.1(HCRTR2):c.846G>A (p.Thr282=) | HCRTR2-related disorder [RCV003925872]|not provided [RCV000946959] | benign | 6 | 55277463 | 55277463 | Human | | name , trait , alternate_id |
| 15187790 | CV722077 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1292C>A (p.Thr431Lys) | HCRTR2-related disorder [RCV003920683]|not provided [RCV000887350] | likely benign | 6 | 55282411 | 55282411 | Human | | name , trait , alternate_id |
| 8559823 | CV22342 | single nucleotide variant | NM_001524.1(HCRT):c.47T>G (p.Leu16Arg) | Narcolepsy 1 [RCV000007726] | pathogenic | 17 | 42184503 | 42184503 | Human | 1 | name |
| 401754324 | CV2727000 | single nucleotide variant | NM_001524.1(HCRT):c.70C>T (p.Pro24Ser) | not specified [RCV004325064] | uncertain significance | 17 | 42184480 | 42184480 | Human | | name |
| 598266191 | CV3971618 | single nucleotide variant | NM_001524.1(HCRT):c.65T>C (p.Leu22Pro) | not specified [RCV005349220] | uncertain significance | 17 | 42184485 | 42184485 | Human | | name |
| 156184735 | CV2251605 | single nucleotide variant | NM_001524.1(HCRT):c.196C>A (p.Leu66Met) | not specified [RCV004117838] | uncertain significance | 17 | 42184354 | 42184354 | Human | | name |
| 155959030 | CV2275721 | single nucleotide variant | NM_001525.3(HCRTR1):c.11C>T (p.Ser4Leu) | not specified [RCV004137330] | uncertain significance | 1 | 31619203 | 31619203 | Human | | name |
| 598246721 | CV3971616 | single nucleotide variant | NM_001524.1(HCRT):c.262G>C (p.Gly88Arg) | not specified [RCV005345200] | uncertain significance | 17 | 42184288 | 42184288 | Human | | name |
| 598266188 | CV3971617 | single nucleotide variant | NM_001524.1(HCRT):c.134G>C (p.Cys45Ser) | not specified [RCV005349219] | uncertain significance | 17 | 42184416 | 42184416 | Human | | name |
| 15107097 | CV707341 | single nucleotide variant | NM_001525.3(HCRTR1):c.237A>G (p.Thr79=) | not provided [RCV000960217] | benign | 1 | 31619569 | 31619569 | Human | | name |
| 15180684 | CV718910 | single nucleotide variant | NM_001525.3(HCRTR1):c.210C>T (p.Ala70=) | not provided [RCV000885586] | benign | 1 | 31619542 | 31619542 | Human | | name |
| 151352889 | CV1326245 | single nucleotide variant | NM_001524.1(HCRT):c.367G>A (p.Val123Ile) | not provided [RCV001815823] | uncertain significance | 17 | 42184183 | 42184183 | Human | | name |
| 156115277 | CV2349285 | single nucleotide variant | NM_001524.1(HCRT):c.326C>T (p.Pro109Leu) | not specified [RCV004199232] | uncertain significance | 17 | 42184224 | 42184224 | Human | | name |
| 156002474 | CV2399551 | single nucleotide variant | NM_001524.1(HCRT):c.344G>A (p.Cys115Tyr) | not specified [RCV004244077] | uncertain significance | 17 | 42184206 | 42184206 | Human | | name |
| 401773169 | CV2716477 | single nucleotide variant | NM_001525.3(HCRTR1):c.33G>A (p.Met11Ile) | not specified [RCV004325782] | likely benign | 1 | 31619225 | 31619225 | Human | | name |
| 401728697 | CV2729748 | single nucleotide variant | NM_001524.1(HCRT):c.323G>A (p.Arg108His) | not specified [RCV004332769] | uncertain significance | 17 | 42184227 | 42184227 | Human | | name |
| 405790152 | CV3266395 | single nucleotide variant | NM_001524.1(HCRT):c.334G>T (p.Gly112Trp) | not specified [RCV004399405] | uncertain significance | 17 | 42184216 | 42184216 | Human | | name |
| 405790154 | CV3266396 | single nucleotide variant | NM_001524.1(HCRT):c.359C>A (p.Ala120Asp) | not specified [RCV004399406] | uncertain significance | 17 | 42184191 | 42184191 | Human | | name |
| 405790157 | CV3266397 | single nucleotide variant | NM_001524.1(HCRT):c.376G>A (p.Gly126Arg) | not specified [RCV004399407] | uncertain significance | 17 | 42184174 | 42184174 | Human | | name |
| 405790169 | CV3266401 | single nucleotide variant | NM_001525.3(HCRTR1):c.47G>T (p.Gly16Val) | not specified [RCV004399411] | uncertain significance | 1 | 31619239 | 31619239 | Human | | name |
| 405790177 | CV3266404 | single nucleotide variant | NM_001525.3(HCRTR1):c.82G>A (p.Glu28Lys) | not specified [RCV004399414] | uncertain significance | 1 | 31619274 | 31619274 | Human | | name |
| 598266194 | CV3971619 | single nucleotide variant | NM_001524.1(HCRT):c.329G>C (p.Cys110Ser) | not specified [RCV005349221] | uncertain significance | 17 | 42184221 | 42184221 | Human | | name |
| 156385103 | CV2371697 | single nucleotide variant | NM_001525.3(HCRTR1):c.194C>T (p.Thr65Met) | not specified [RCV004218981] | uncertain significance | 1 | 31619386 | 31619386 | Human | | name |
| 156093771 | CV2389740 | single nucleotide variant | NM_001525.3(HCRTR1):c.218G>A (p.Arg73Gln) | not specified [RCV004243786] | uncertain significance | 1 | 31619550 | 31619550 | Human | | name |
| 401727824 | CV2678488 | single nucleotide variant | NM_001525.3(HCRTR1):c.211G>A (p.Val71Met) | not specified [RCV004292504] | uncertain significance | 1 | 31619543 | 31619543 | Human | | name |
| 401874854 | CV2756095 | single nucleotide variant | NM_001525.3(HCRTR1):c.260A>G (p.Asn87Ser) | not specified [RCV004338210] | uncertain significance | 1 | 31619592 | 31619592 | Human | | name |
| 405790166 | CV3266400 | single nucleotide variant | NM_001525.3(HCRTR1):c.230T>C (p.Met77Thr) | not specified [RCV004399410] | uncertain significance | 1 | 31619562 | 31619562 | Human | | name |
| 597781546 | CV3679041 | single nucleotide variant | NM_001525.3(HCRTR1):c.226C>T (p.His76Tyr) | not specified [RCV004930924] | uncertain significance | 1 | 31619558 | 31619558 | Human | | name |
| 598246728 | CV3971620 | single nucleotide variant | NM_001525.3(HCRTR1):c.109C>T (p.Arg37Cys) | not specified [RCV005345201] | uncertain significance | 1 | 31619301 | 31619301 | Human | | name |
| 156262918 | CV2201124 | single nucleotide variant | NM_001525.3(HCRTR1):c.649A>G (p.Ser217Gly) | not specified [RCV004077286] | uncertain significance | 1 | 31621503 | 31621503 | Human | | name |
| 156263015 | CV2201132 | single nucleotide variant | NM_001525.3(HCRTR1):c.673C>G (p.Leu225Val) | not specified [RCV004077294] | uncertain significance | 1 | 31621527 | 31621527 | Human | | name |
| 156399275 | CV2205023 | single nucleotide variant | NM_001525.3(HCRTR1):c.767G>A (p.Arg256Gln) | not specified [RCV004077639] | uncertain significance | 1 | 31623551 | 31623551 | Human | | name |
| 155967363 | CV2280365 | single nucleotide variant | NM_001525.3(HCRTR1):c.418A>G (p.Ile140Val) | not specified [RCV004140553] | uncertain significance | 1 | 31620882 | 31620882 | Human | | name |
| 156008192 | CV2288509 | single nucleotide variant | NM_001525.3(HCRTR1):c.823G>A (p.Glu275Lys) | not specified [RCV004152043] | uncertain significance | 1 | 31623607 | 31623607 | Human | | name |
| 155984785 | CV2344457 | single nucleotide variant | NM_001525.3(HCRTR1):c.946G>A (p.Val316Ile) | not specified [RCV004195201] | uncertain significance | 1 | 31623730 | 31623730 | Human | | name |
| 156119601 | CV2354087 | single nucleotide variant | NM_001525.3(HCRTR1):c.319G>A (p.Asp107Asn) | not specified [RCV004206526] | uncertain significance | 1 | 31619651 | 31619651 | Human | | name |
| 156148656 | CV2377344 | single nucleotide variant | NM_001525.3(HCRTR1):c.766C>T (p.Arg256Trp) | not specified [RCV004225525] | uncertain significance | 1 | 31623550 | 31623550 | Human | | name |
| 156071387 | CV2381384 | single nucleotide variant | NM_001525.3(HCRTR1):c.982C>T (p.Arg328Cys) | not specified [RCV004227434] | uncertain significance | 1 | 31625013 | 31625013 | Human | | name |
| 156134288 | CV2383124 | single nucleotide variant | NM_001525.3(HCRTR1):c.983G>A (p.Arg328His) | not specified [RCV004219739] | uncertain significance | 1 | 31625014 | 31625014 | Human | | name |
| 329361018 | CV2436593 | single nucleotide variant | NM_001525.3(HCRTR1):c.478C>T (p.Arg160Trp) | not specified [RCV004257975] | uncertain significance | 1 | 31620942 | 31620942 | Human | | name |
| 401746372 | CV2678825 | single nucleotide variant | NM_001525.3(HCRTR1):c.538G>A (p.Ala180Thr) | not specified [RCV004292806] | uncertain significance | 1 | 31621002 | 31621002 | Human | | name |
| 401745139 | CV2693189 | single nucleotide variant | NM_001525.3(HCRTR1):c.959T>C (p.Leu320Pro) | not specified [RCV004293119] | uncertain significance | 1 | 31623743 | 31623743 | Human | | name |
| 401873067 | CV2776421 | single nucleotide variant | NM_001525.3(HCRTR1):c.898C>A (p.Leu300Met) | not specified [RCV004355543] | uncertain significance | 1 | 31623682 | 31623682 | Human | | name |
| 401892444 | CV2781960 | single nucleotide variant | NM_001525.3(HCRTR1):c.343G>A (p.Gly115Ser) | not specified [RCV004357191] | uncertain significance | 1 | 31619675 | 31619675 | Human | | name |
| 405790172 | CV3266402 | single nucleotide variant | NM_001525.3(HCRTR1):c.584G>A (p.Arg195His) | not specified [RCV004399412] | uncertain significance | 1 | 31621048 | 31621048 | Human | | name |
| 405790175 | CV3266403 | single nucleotide variant | NM_001525.3(HCRTR1):c.742C>A (p.Pro248Thr) | not specified [RCV004399413] | uncertain significance | 1 | 31623526 | 31623526 | Human | | name |
| 405790180 | CV3266405 | single nucleotide variant | NM_001525.3(HCRTR1):c.968T>C (p.Val323Ala) | not specified [RCV004399415] | uncertain significance | 1 | 31624999 | 31624999 | Human | | name |
| 407514404 | CV3440209 | single nucleotide variant | NM_001525.3(HCRTR1):c.734G>A (p.Arg245His) | not specified [RCV004627595] | uncertain significance | 1 | 31621588 | 31621588 | Human | | name |
| 407514406 | CV3440210 | single nucleotide variant | NM_001525.3(HCRTR1):c.614G>A (p.Arg205His) | not specified [RCV004627596] | likely benign | 1 | 31621078 | 31621078 | Human | | name |
| 597710207 | CV3679038 | single nucleotide variant | NM_001525.3(HCRTR1):c.484C>T (p.Arg162Cys) | not specified [RCV004917431] | uncertain significance | 1 | 31620948 | 31620948 | Human | | name |
| 597781543 | CV3679039 | single nucleotide variant | NM_001525.3(HCRTR1):c.485G>A (p.Arg162His) | not specified [RCV004930923] | uncertain significance | 1 | 31620949 | 31620949 | Human | | name |
| 597710215 | CV3679040 | single nucleotide variant | NM_001525.3(HCRTR1):c.668C>T (p.Thr223Ile) | not specified [RCV004917432] | uncertain significance | 1 | 31621522 | 31621522 | Human | | name |
| 597710224 | CV3679042 | single nucleotide variant | NM_001525.3(HCRTR1):c.301C>T (p.Pro101Ser) | not specified [RCV004917433] | uncertain significance | 1 | 31619633 | 31619633 | Human | | name |
| 15132613 | CV707342 | single nucleotide variant | NM_001525.3(HCRTR1):c.836G>A (p.Arg279Gln) | not provided [RCV000964805] | benign | 1 | 31623620 | 31623620 | Human | | name |
| 156065835 | CV2348915 | single nucleotide variant | NM_001525.3(HCRTR1):c.1084A>G (p.Ser362Gly) | not specified [RCV004203350] | uncertain significance | 1 | 31625115 | 31625115 | Human | | name |
| 156199599 | CV2392280 | single nucleotide variant | NM_001525.3(HCRTR1):c.1097G>A (p.Arg366Gln) | not specified [RCV004243885] | uncertain significance | 1 | 31626799 | 31626799 | Human | | name |
| 329376638 | CV2438292 | single nucleotide variant | NM_001525.3(HCRTR1):c.1105T>C (p.Phe369Leu) | not specified [RCV004257048] | uncertain significance | 1 | 31626807 | 31626807 | Human | | name |
| 401754573 | CV2682231 | single nucleotide variant | NM_001384272.1(HCRTR2):c.41A>G (p.Asn14Ser) | not specified [RCV004297191] | uncertain significance | 6 | 55174628 | 55174628 | Human | | name |
| 401890365 | CV2755827 | single nucleotide variant | NM_001525.3(HCRTR1):c.1258G>A (p.Val420Ile) | not specified [RCV004342197] | uncertain significance | 1 | 31626960 | 31626960 | Human | | name |
| 405790163 | CV3266399 | single nucleotide variant | NM_001525.3(HCRTR1):c.1124G>A (p.Cys375Tyr) | not specified [RCV004399409] | uncertain significance | 1 | 31626826 | 31626826 | Human | | name |
| 155967174 | CV2280268 | single nucleotide variant | NM_001384272.1(HCRTR2):c.205C>T (p.Leu69Phe) | not specified [RCV004140472] | uncertain significance | 6 | 55174792 | 55174792 | Human | | name |
| 329386731 | CV2428405 | single nucleotide variant | NM_001384272.1(HCRTR2):c.163T>C (p.Trp55Arg) | not specified [RCV004253209] | uncertain significance | 6 | 55174750 | 55174750 | Human | | name |
| 401737355 | CV2679291 | single nucleotide variant | NM_001384272.1(HCRTR2):c.158A>G (p.Tyr53Cys) | not specified [RCV004285835] | uncertain significance | 6 | 55174745 | 55174745 | Human | | name |
| 405790189 | CV3266408 | single nucleotide variant | NM_001384272.1(HCRTR2):c.179G>T (p.Gly60Val) | not specified [RCV004399418] | uncertain significance | 6 | 55174766 | 55174766 | Human | | name |
| 405790193 | CV3266409 | single nucleotide variant | NM_001384272.1(HCRTR2):c.295G>T (p.Ala99Ser) | not specified [RCV004399419] | uncertain significance | 6 | 55248710 | 55248710 | Human | | name |
| 597710233 | CV3679045 | single nucleotide variant | NM_001384272.1(HCRTR2):c.179G>C (p.Gly60Ala) | not specified [RCV004917434] | uncertain significance | 6 | 55174766 | 55174766 | Human | | name |
| 598246734 | CV3971624 | single nucleotide variant | NM_001384272.1(HCRTR2):c.257G>A (p.Arg86Lys) | not specified [RCV005345202] | uncertain significance | 6 | 55248672 | 55248672 | Human | | name |
| 598266209 | CV3971625 | single nucleotide variant | NM_001384272.1(HCRTR2):c.208A>C (p.Ile70Leu) | not specified [RCV005349225] | uncertain significance | 6 | 55174795 | 55174795 | Human | | name |
| 15162287 | CV735711 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1182C>T (p.Leu394=) | not provided [RCV000903522] | benign | 6 | 55282301 | 55282301 | Human | | name |
| 156400755 | CV2217129 | single nucleotide variant | NM_001384272.1(HCRTR2):c.547A>G (p.Ile183Val) | not specified [RCV004085801] | uncertain significance | 6 | 55255280 | 55255280 | Human | | name |
| 155987110 | CV2234062 | single nucleotide variant | NM_001384272.1(HCRTR2):c.743G>T (p.Arg248Leu) | not specified [RCV004106168] | uncertain significance | 6 | 55263803 | 55263803 | Human | | name |
| 155973358 | CV2320994 | single nucleotide variant | NM_001384272.1(HCRTR2):c.827G>A (p.Arg276Gln) | not specified [RCV004172790] | uncertain significance | 6 | 55277444 | 55277444 | Human | | name |
| 156343186 | CV2364075 | single nucleotide variant | NM_001384272.1(HCRTR2):c.509G>A (p.Arg170His) | not specified [RCV004221459] | uncertain significance | 6 | 55255242 | 55255242 | Human | | name |
| 155990006 | CV2371996 | single nucleotide variant | NM_001384272.1(HCRTR2):c.676T>G (p.Cys226Gly) | not specified [RCV004221671] | uncertain significance | 6 | 55263736 | 55263736 | Human | | name |
| 156261859 | CV2376839 | single nucleotide variant | NM_001384272.1(HCRTR2):c.964A>G (p.Ile322Val) | not specified [RCV004229542] | uncertain significance | 6 | 55277581 | 55277581 | Human | | name |
| 329366921 | CV2441978 | single nucleotide variant | NM_001384272.1(HCRTR2):c.778T>A (p.Ser260Thr) | not specified [RCV004262151] | uncertain significance | 6 | 55277395 | 55277395 | Human | | name |
| 329387652 | CV2446747 | single nucleotide variant | NM_001384272.1(HCRTR2):c.314T>C (p.Ile105Thr) | not specified [RCV004257620] | uncertain significance | 6 | 55248729 | 55248729 | Human | | name |
| 329389302 | CV2467255 | single nucleotide variant | NM_001384272.1(HCRTR2):c.602C>G (p.Ala201Gly) | not specified [RCV004285064] | uncertain significance | 6 | 55255335 | 55255335 | Human | | name |
| 401891115 | CV2769045 | single nucleotide variant | NM_001384272.1(HCRTR2):c.736A>G (p.Ile246Val) | not specified [RCV004348913] | uncertain significance | 6 | 55263796 | 55263796 | Human | | name |
| 401865153 | CV2791536 | single nucleotide variant | NM_001384272.1(HCRTR2):c.637C>T (p.Arg213Cys) | not specified [RCV004358913] | uncertain significance | 6 | 55255370 | 55255370 | Human | | name |
| 597781554 | CV3679046 | single nucleotide variant | NM_001384272.1(HCRTR2):c.775T>A (p.Ser259Thr) | not specified [RCV004930926] | uncertain significance | 6 | 55277392 | 55277392 | Human | | name |
| 597710240 | CV3679047 | single nucleotide variant | NM_001384272.1(HCRTR2):c.830G>T (p.Gly277Val) | not specified [RCV004917435] | uncertain significance | 6 | 55277447 | 55277447 | Human | | name |
| 598266217 | CV3971627 | single nucleotide variant | NM_001384272.1(HCRTR2):c.826C>G (p.Arg276Gly) | not specified [RCV005349227] | uncertain significance | 6 | 55277443 | 55277443 | Human | | name |
| 155928292 | CV2363251 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1156G>C (p.Val386Leu) | not specified [RCV004213810] | uncertain significance | 6 | 55282275 | 55282275 | Human | | name |
| 401759252 | CV2708544 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1173G>C (p.Glu391Asp) | not specified [RCV004307540] | uncertain significance | 6 | 55282292 | 55282292 | Human | | name |
| 401887542 | CV2773495 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1228C>G (p.Gln410Glu) | not specified [RCV004354125] | uncertain significance | 6 | 55282347 | 55282347 | Human | | name |
| 401891097 | CV2778642 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1220T>G (p.Leu407Trp) | not specified [RCV004344286] | uncertain significance | 6 | 55282339 | 55282339 | Human | | name |
| 405790183 | CV3266406 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1234A>G (p.Ser412Gly) | not specified [RCV004399416] | uncertain significance | 6 | 55282353 | 55282353 | Human | | name |
| 405790187 | CV3266407 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1307A>G (p.Asn436Ser) | not specified [RCV004399417] | uncertain significance | 6 | 55282426 | 55282426 | Human | | name |
| 597781550 | CV3679044 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1184C>T (p.Thr395Ile) | not specified [RCV004930925] | uncertain significance | 6 | 55282303 | 55282303 | Human | | name |
| 598266198 | CV3971621 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1178G>A (p.Arg393Gln) | not specified [RCV005349222] | likely benign | 6 | 55282297 | 55282297 | Human | | name |
| 598266202 | CV3971622 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1172A>T (p.Glu391Val) | not specified [RCV005349223] | uncertain significance | 6 | 55282291 | 55282291 | Human | | name |
| 598266206 | CV3971623 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1103G>A (p.Ser368Asn) | not specified [RCV005349224] | uncertain significance | 6 | 55280442 | 55280442 | Human | | name |
| 598266214 | CV3971626 | single nucleotide variant | NM_001384272.1(HCRTR2):c.1151T>A (p.Leu384His) | not specified [RCV005349226] | uncertain significance | 6 | 55282270 | 55282270 | Human | | name |